Hutchinson Gilford Progeria Syndrome

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Hutchinson Gilford Progeria syndrome (HGPS) is a very rare and destructive genetic disorder. It is progressive, causing children to age rapidly beginning 2 years after birth. Children with Progeria usually appear normal at birth, however by 1 year the signs and symptoms of Progeria begin. Symptoms of Progeria include short stature, bulging eyes, micrognathia, disproportion of head to body, alopecia, beaked nose, pathologic bone fractures, hearing loss, photophobia and hypertension. (Alves and others 2014) Progeria’s occurrence is 1 in 4 million to 1 in 8 million live births and males are more frequently affected than females. The average life expectancy for a child with Progeria is about 13. (King 2013) However some with the disease die younger and some live to be 20 years or older. Death in Progeria is primarily caused by heart attacks and atherosclerosis. Atherosclerosis is a disease in which the arteries become hardened. (Bhimji 2011) Although Progeria demonstrates both autosomal dominant and autosomal recessive methods of inheritance, most cases are due to random mutations (Alves and others 2014) In 2003 it was discovered that Progeria is caused by a single base mutation in LMNA which results in the production of a mutant Lamin A protein product called Progerin. (Blondel and others 2014) Progerin is toxic and causes distribution of the nuclear structure, defects in DNA repair processes and other issues that are associated with the premature aging that their bodies

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